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Determinants of platelet count in humans

Haematologica (Roma), 2011-01, Vol.96 (1), p.10-13

Daly, Martina E

2011

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Sorting nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes

Haematologica (Roma), 2022-08, Vol.107 (8), p.1902-1913

2022

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Gene of the issue: RUNX1 mutations and inherited bleeding

Platelets (Edinburgh), 2017-02, Vol.28 (2), p.208-210

2017

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Transcription factor defects causing platelet disorders

Blood reviews, 2017-01, Vol.31 (1), p.1-10

Daly, Martina E

2017

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An intact PDZ motif is essential for correct P2Y12 purinoceptor traffic in human platelets

Blood, 2011-11, Vol.118 (20), p.5641-5651

2011

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Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease

PloS one, 2015-12, Vol.10 (12), p.e0143913-e0143913

2015

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Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel

Blood, 2012-12, Vol.120 (25), p.5041-5049

2012

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SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects

The Journal of clinical investigation, 2015-09, Vol.125 (9), p.3600-3605

2015

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Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

Blood, 2013-12, Vol.122 (25), p.4090-4093

2013

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Analysis of intracellular storage and regulated secretion of 3 von Willebrand disease–causing variants of von Willebrand factor

Blood, 2003-10, Vol.102 (7), p.2452-2458

2003

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Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay

Blood, 2014-02, Vol.123 (8), p.e11-e22

2014

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Transient inherited antithrombin deficiency: a real phenomenon?

Thrombosis and haemostasis, 2017, Vol.117 (3), p.642-643

2017

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What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?

British journal of haematology, 2014-04, Vol.165 (2), p.193-203

2014

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Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors

Thrombosis and haemostasis, 2015-04, Vol.113 (4), p.826-837

2015

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A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis

Blood, 2010-01, Vol.115 (2), p.363-369

2010

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Identification and characterization of a novel P2Y12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study

Blood, 2009-04, Vol.113 (17), p.4110-4113

2009

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A comprehensive targeted next‐generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia

Research and practice in thrombosis and haemostasis, 2018-10, Vol.2 (4), p.640-652

2018

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Hemostatic regulators of tumor angiogenesis: A source of antiangiogenic agents for cancer treatment?

JNCI : Journal of the National Cancer Institute, 2003-11, Vol.95 (22), p.1660-1673

2003

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ISTH Advanced Training Course on platelet bleeding disorders: How should they be investigated? St. Anne's College, Oxford, 6-9 th September 2016

Platelets (Edinburgh), 2016-12, Vol.27 (8), p.719-721

2016

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ISTH Advanced Training Course on platelet bleeding disorders: How should they be investigated?: St. Anne's College, Oxford, 6-9th September 2016

Platelets, 2016-12, Vol.27 (8), p.719-721

2016

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Lack of association between polymorphisms in the interleukin-1 gene cluster and familial thrombophilia

Thrombosis research, 2012-05, Vol.129 (5), p.629-634

2012

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Common sequence variations in the P2Y12 and CYP3A5 genes do not explain the variability in the inhibitory effects of clopidogrel therapy

Platelets (Edinburgh), 2006-06, Vol.17 (4), p.250-258

2006

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The −1185 A/G and −1051 G/A dimorphisms in the von Willebrand factor gene promoter and risk of myocardial infarction

British journal of haematology, 2001-12, Vol.115 (3), p.701-706

2001

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The prevalence of, and molecular defects underlying, inherited protein S deficiency in the general population

British journal of haematology, 2004-06, Vol.125 (5), p.647-654

2004

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Determinants of platelet count in humans

Sorting nexin 24 is required for α-granule biogenesis and cargo delivery in megakaryocytes

Gene of the issue: RUNX1 mutations and inherited bleeding

Transcription factor defects causing platelet disorders

An intact PDZ motif is essential for correct P2Y12 purinoceptor traffic in human platelets

Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease

Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

Analysis of intracellular storage and regulated secretion of 3 von Willebrand disease–causing variants of von Willebrand factor

Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay

Transient inherited antithrombin deficiency: a real phenomenon?

What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?

Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors

A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis

Identification and characterization of a novel P2Y12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study

A comprehensive targeted next‐generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia

Hemostatic regulators of tumor angiogenesis: A source of antiangiogenic agents for cancer treatment?

ISTH Advanced Training Course on platelet bleeding disorders: How should they be investigated? St. Anne's College, Oxford, 6-9 th September 2016

ISTH Advanced Training Course on platelet bleeding disorders: How should they be investigated?: St. Anne's College, Oxford, 6-9th September 2016

Lack of association between polymorphisms in the interleukin-1 gene cluster and familial thrombophilia

Common sequence variations in the P2Y12 and CYP3A5 genes do not explain the variability in the inhibitory effects of clopidogrel therapy

The −1185 A/G and −1051 G/A dimorphisms in the von Willebrand factor gene promoter and risk of myocardial infarction

The prevalence of, and molecular defects underlying, inherited protein S deficiency in the general population

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